Study explores genomic testing approach for unexplained infertility
pharmafile | May 14, 2026 | News story | Research and Development | infertility
Researchers across the Asia Pacific region have reported findings from a study investigating whether long-read whole genome sequencing could improve identification of genetic factors linked to unexplained subfertility and recurrent pregnancy loss.
The multicentre study, led through the HiFi Solves Sub-fertility Consortium in Asia Pacific, involved researchers from Singapore, South Korea, Thailand and Taiwan. It focused on couples whose fertility investigations had failed to identify a known cause despite standard clinical evaluations.
According to the researchers, current genetic testing pathways for infertility can involve multiple separate tests over an extended period, with many couples still left without clear answers. The study evaluated whether a single sequencing workflow could identify a broader range of genetic variants in one test.
A total of 96 individuals were recruited, including 47 couples and two individual participants. Of these, 84 underwent PacBio HiFi whole genome sequencing, which was used to analyse multiple forms of genomic variation simultaneously.
The researchers reported that clinically relevant genomic findings were identified in around one in 10 couples, despite all participants previously having unexplained subfertility or recurrent pregnancy loss after routine investigations.
Senior author of the study Dr Saumya Jamuar said the collaborative approach allowed researchers to apply a standardised sequencing method across different patient populations in the region. He added that the technology may help reduce the need for sequential testing and could eventually be evaluated as a first-line genomic test in subfertility.
The study also used a federated data analysis framework from DNAstack designed to support collaboration between institutions while allowing participating sites to retain control of patient data.
Subfertility affects around one in six couples globally and demand for fertility treatment continues to increase in many countries. Researchers involved in the consortium said future work will focus on expanding recruitment across additional centres and assessing whether broader genomic approaches could improve accessibility and cost-efficiency in reproductive medicine.
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